Stickler syndrome

Autosomal dominant - en

Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. It is named after Dr. Gunnar B. Stickler, who first described the condition in 1965.

Signs and Symptoms

Individuals with Stickler syndrome may exhibit a variety of symptoms, which can vary in severity. Common features include:

• **Facial features**: A flat facial profile, a small nose with a scooped-out appearance, and a small chin (micrognathia).
• **Eye abnormalities**: Severe nearsightedness (myopia), cataracts, and an increased risk of retinal detachment.
• **Hearing loss**: Sensorineural hearing loss, which can be mild to severe.
• **Joint problems**: Early-onset osteoarthritis, hypermobile joints, and scoliosis.

Genetics

Stickler syndrome is typically inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. Mutations in several genes, including COL2A1, COL11A1, and COL11A2, are known to cause Stickler syndrome. These genes are involved in the production of collagen, a protein that provides structure and strength to connective tissues.

Diagnosis

Diagnosis of Stickler syndrome is based on clinical evaluation, family history, and the identification of characteristic features. Genetic testing can confirm the diagnosis by detecting mutations in the associated genes.

Treatment

There is no cure for Stickler syndrome, but treatment focuses on managing symptoms and preventing complications. This may include:

• **Eye care**: Regular eye exams, corrective lenses, and surgery for cataracts or retinal detachment.
• **Hearing aids**: To address hearing loss.
• **Orthopedic care**: Physical therapy, pain management, and surgery for severe joint problems.
• **Speech therapy**: For individuals with cleft palate or other speech difficulties.

Prognosis

The prognosis for individuals with Stickler syndrome varies depending on the severity of symptoms. With appropriate management, many people with Stickler syndrome can lead relatively normal lives.

Related Pages

• Connective tissue
• Myopia
• Retinal detachment
• Osteoarthritis
• Scoliosis
• Cleft palate

Categories

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